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Journal of Paediatrics and Child Health
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June 18, 2024
Intellectual disability: A potentially treatable condition
Sarah E Donoghue, David J Amor
Journal of Pediatric Endocrinology & Metabolism : JPEM
|
February 19, 2018
Smith-Lemli-Opitz syndrome: clinical and biochemical correlates
Sarah E Donoghue, James J Pitt, Avihu Boneh, et al.
Journal of Paediatrics and Child Health
|
September 12, 2023
Developmental regression with early feeding difficulties and characteristic neuroimaging features of H-ABC in an infant from a TUBB4A genetic variant
Billie Charles-Britton, Yen Lee Leong, Damian Clark, et al.
Clinical Chemistry and Laboratory Medicine
|
August 24, 2022
Free urinary sialic acid levels may be elevated in patients with pneumococcal sepsis
Sarah E Donoghue, Oliver Heath, James Pitt, et al.
JIMD Reports
|
January 21, 2021
Galactose treatment of a PGM1 patient presenting with restrictive cardiomyopathy
Sarah E Donoghue, Susan M White, Tiong Yang Tan, et al.
Page
of 1
Search research articles
Search
Showing results (1-10 of 5) with videos related to
Sort By:
Page
of 1
Journal of Paediatrics and Child Health
|
June 18, 2024
Intellectual disability: A potentially treatable condition
Sarah E Donoghue, David J Amor
Journal of Pediatric Endocrinology & Metabolism : JPEM
|
February 19, 2018
Smith-Lemli-Opitz syndrome: clinical and biochemical correlates
Sarah E Donoghue, James J Pitt, Avihu Boneh, et al.
Journal of Paediatrics and Child Health
|
September 12, 2023
Developmental regression with early feeding difficulties and characteristic neuroimaging features of H-ABC in an infant from a TUBB4A genetic variant
Billie Charles-Britton, Yen Lee Leong, Damian Clark, et al.
Clinical Chemistry and Laboratory Medicine
|
August 24, 2022
Free urinary sialic acid levels may be elevated in patients with pneumococcal sepsis
Sarah E Donoghue, Oliver Heath, James Pitt, et al.
JIMD Reports
|
January 21, 2021
Galactose treatment of a PGM1 patient presenting with restrictive cardiomyopathy
Sarah E Donoghue, Susan M White, Tiong Yang Tan, et al.
Page
of 1